RT Journal Article
T1 Developmental defects in a caenorhabditis elegans model for type III galactosemia
A1 Brokate Llanos, Ana María
A1 Monje, José Manuel
A1 del Socorro Murdoch, Piedad
A1 Muñoz Ruiz, Manuel Jesús
K1 Caenorhabditis elegans
K1 Galactosemia type III
K1 Glycosylation
K1 GALE
K1 Unfolded protein response
AB Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosylation process. We also observed that gale-1 mutants are hypersensitive to galactose as well as to infections. Interestingly, we found interactions between gale-1 and the unfolded protein response.
PB Oxford Academic
YR 2014
FD 2014-10-08
LK https://hdl.handle.net/10433/23795
UL https://hdl.handle.net/10433/23795
LA en
NO Genetics, Volume 198, Issue 4, 1 December 2014, Pages 1559–1569,
NO This work was supported by the Junta de Andalucía (P07-CVI-02697) and the Spanish Ministry of Science and Innovation (BFU2006-07391/BMC) and Ministry of Economy and Competitiveness (BFU2013-46923-P). A.M.B.-L. was supported by a Plan Propio de Investigación fellowship from the Universidad Pablo de Olavide. J.M.M. was supported by the Formación del personal Universitario program of the Spanish Ministry of Science and Innovation.
NO Universidad Pablo de Olavide, Departamento de Biología Molecular e Ingeniería Bioquímica
NO Departamento de Bioquímica y Biología Molecular, Facultad de Biología, Universidad de Sevilla
DS RIO
RD May 23, 2026